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组织癌症遗传学项目:瑞士模式。

Organizing cancer genetics programs: the Swiss model.

作者信息

Pichert G, Stahel R A

机构信息

Division of Oncology, Department of Medicine, University Hospital, Zürich, Switzerland.

出版信息

J Clin Oncol. 2000 Nov 1;18(21 Suppl):65S-9S.

PMID:11060330
Abstract

PURPOSE

Inherited predisposition to cancer is a complex issue, and risk assessment, counseling, and management are multidisciplinary tasks. An infrastructure is needed through which clinical services may be delivered and research activities conducted.

METHODS

The Swiss Institute for Applied Cancer Research (SIAK) Network for Cancer Predisposition Testing and Counseling was established in 1999. The goals of the Network are to set common standards for clinical services, to coordinate research activities, to address psychosocial and ethical issues concerning genetic counseling and testing, and to translate the knowledge gained into medical practice.

RESULTS

An algorithm for genetic testing and counseling of the families studied by the SIAK Network centers has been established in a consensual process. Eight regional centers currently operate according to this algorithm. Furthermore, a proposal has been submitted for the setup of a Swiss databank for the characterization of BRCA1 and BRCA2 mutation patterns and the identification of potentially unique mutations in probands who seek genetic counseling and testing at the respective centers of the SIAK Network.

CONCLUSION

Our coordinated effort will ensure state-of-the-art genetic testing and counseling services in Switzerland and will allow us to acquire knowledge for appropriate risk assessment and surveillance/prevention strategies for individuals with an inherited cancer predisposition.

摘要

目的

癌症的遗传易感性是一个复杂的问题,风险评估、咨询和管理是多学科任务。需要一个基础设施来提供临床服务并开展研究活动。

方法

瑞士应用癌症研究所在1999年建立了癌症易感性检测与咨询网络(SIAK)。该网络的目标是为临床服务设定共同标准,协调研究活动,解决有关遗传咨询和检测的社会心理及伦理问题,并将获得的知识转化为医疗实践。

结果

通过协商一致的过程,为SIAK网络中心所研究的家庭建立了遗传检测和咨询算法。目前有八个区域中心按照该算法运作。此外,已提交一项提案,建议设立一个瑞士数据库,用于表征BRCA1和BRCA2突变模式,并在到SIAK网络各中心寻求遗传咨询和检测的先证者中识别潜在的独特突变。

结论

我们的协同努力将确保在瑞士提供最先进的遗传检测和咨询服务,并使我们能够获取知识,为有遗传性癌症易感性的个体制定适当的风险评估和监测/预防策略。

相似文献

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Organizing cancer genetics programs: the Swiss model.组织癌症遗传学项目:瑞士模式。
J Clin Oncol. 2000 Nov 1;18(21 Suppl):65S-9S.
2
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Attitudes and psychological impact of genetic testing, genetic counseling, and breast cancer risk assessment among women at increased risk.高风险女性对基因检测、遗传咨询及乳腺癌风险评估的态度和心理影响。
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Breast J. 2009 Sep-Oct;15 Suppl 1:S56-62. doi: 10.1111/j.1524-4741.2009.00798.x.
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